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BMC Urology, 2023 Background Primary retroperitoneal mucinous cystic tumours with borderline malignancy (PRMC-BM) are rare and difficult to diagnose preoperatively. We are the first to report two cases of PRMC-BM which mimic a duplex kidney and evaluate the outcomes of ...
Junlong Zhang +5 more
doaj +1 more source
Pediatric Liver Transplantation: Then and Now [PDF]
, 2020 This paper reviews the past 50 years of liver transplantation in children from the perspective of patient demographics, perioperative patient management, surgical techniques, immunosuppression and patient ...
Banh, DPT +4 more
core +1 more source
Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies
Kidney International, 2013 Rare single-gene disorders cause chronic disease. However, half of the 6,000 recessive single gene causes of disease are still unknown. Because recessive disease genes can illuminate, at least in part, disease pathomechanism, their identification offers ...
H. Gee +40 more
semanticscholar +1 more source
Nephronophthisis and medullary cystic kidney disease complex [PDF]
Vojnosanitetski Pregled, 2005 Background. Nephronophthisis and medullary cystic kidney disease complex refers to the genetic heterogeneous group of inherited tubulointerstital nephritis. Nephronophthisis comprises at last 3 clinical manifestations, has the autosomal recessive pattern
Stanišić Marijana +3 more
doaj +1 more source
Wall Tension and Tubular Resistance in Kidney Cystic Conditions
Biomedicines, 2023 The progressive formation of single or multiple cysts accompanies several renal diseases. Specifically, (i) genetic forms, such as adult dominant polycystic kidney disease (ADPKD), and (ii) acquired cystic kidney disease (ACKD) are probably the most ...
Michele Della Corte, Davide Viggiano
doaj +1 more source
Medeniyet Medical Journal, 2021 Mutations in hepatocyte nuclear factor-1 beta (HNF1B) are the most commonly identified genetic cause of renal malformations. Heterozygous mutations are associated with renal cysts and diabetes syndrome.
Nilüfer Göknar +5 more
doaj +1 more source
Tumors in von Hippel–Lindau Syndrome: From Head to Toe—Comprehensive State-of-the-Art Review [PDF]
, 2018 Von Hippel–Lindau syndrome (VHL) is an autosomal-dominant hereditary tumor disease that arises owing to germline mutations in the VHL gene, located on the short arm of chromosome 3.
Bhalla, Sanjeev +6 more
core +1 more source
Localized renal cystic disease
Indian Journal of Urology, 2015 Localized renal cystic disease (LRCD) is a rare benign non-hereditary, non-progressive condition which must be differentiated from other renal cystic diseases.
Ramakrishna Narayanan +2 more
doaj +1 more source
Clinical utility of genetic testing in Indian children with kidney diseases
BMC Nephrology, 2023 Background Kidney diseases with genetic etiology in children present with an overlapping spectrum of manifestations. We aimed to analyze the clinical utility of genetic testing in the diagnosis and management of suspected genetic kidney diseases in ...
Anshuman Saha +3 more
doaj +1 more source
Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract [PDF]
, 2019 Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described.
Aguayo Calcena, Aníbal +5 more
core +2 more sources